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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826651226
Gene: BARD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127745
ClinVar RCV Id:
RCV000115641
RCV000205761
RCV000587339
RCV002465514
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269472.1:p.Gln218Glu
CA331823
NM_001282543.2:c.652C>G